Variant detection, annotation and clinical interpretation
In this tutorial, we will demonstrate basic pipelines for detecting and interpreting genetic variation from short-read sequencing data. We'll start with the analysis-ready data from CM4.4, performing variant calling on a single sample. We will follow this up with multi-sample variant calling and genotyping, variant annotation, filtering and interpretation.
To get started, go and get the prerequisites.
Contributors
- Matthieu Miossec
- Merve Bilici
- Helen Lockstone
- Gavin Band